Canonical Allele Identifier: CA2647393307

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119726852-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726853del , CM000663.2:g.119726853del	GRCh38
NC_000001.10:g.120269476del , CM000663.1:g.120269476del	GRCh37
NC_000001.9:g.120070999del	NCBI36
NG_009188.1:g.20058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.359del	ENSP00000358417.5:p.Gln120ArgfsTer9
ENST00000462324.2:n.442del
ENST00000641023.2:c.359del MANE Select	ENSP00000493175.1:p.Gln120ArgfsTer9
ENST00000641074.1:c.359del	ENSP00000493446.1:p.Gln120ArgfsTer9
ENST00000641115.1:c.359del	ENSP00000493264.1:p.Gln120ArgfsTer9
ENST00000641213.1:c.*12del	ENSP00000493079.1:n.*12del
ENST00000641247.1:c.*78del	ENSP00000492955.1:n.*78del
ENST00000641272.1:c.293del	ENSP00000493432.1:p.Gln98ArgfsTer9
ENST00000641314.1:n.344del
ENST00000641371.1:c.273del	ENSP00000493305.1:p.Asp92IlefsTer?
ENST00000641375.1:c.*195del	ENSP00000493089.1:n.*195del
ENST00000641491.1:c.*12del	ENSP00000493187.1:n.*12del
ENST00000641513.1:c.*103del	ENSP00000493398.1:n.*103del
ENST00000641570.1:c.*78del	ENSP00000493213.1:n.*78del
ENST00000641573.1:n.447del
ENST00000641587.1:c.*70del	ENSP00000493453.1:n.*70del
ENST00000641597.1:c.359del	ENSP00000493382.1:p.Gln120ArgfsTer9
ENST00000641711.1:n.583del
ENST00000641756.1:c.*103del	ENSP00000493147.1:n.*103del
ENST00000641811.1:c.115del
ENST00000641847.1:n.218del
ENST00000641891.1:c.*185del	ENSP00000493288.1:n.*185del
ENST00000641927.1:n.299del
ENST00000641947.1:c.359del	ENSP00000492994.1:p.Gln120ArgfsTer9
ENST00000642021.1:n.481del
ENST00000642041.1:c.*398del	ENSP00000493415.1:n.*398del
ENST00000369407.3:c.257del	ENSP00000358415.3:p.Gln86ArgfsTer9
ENST00000369409.8:c.359del	ENSP00000358417.4:p.Gln120ArgfsTer9
ENST00000462324.1:n.627del
ENST00000493622.5:n.548del
NM_006623.3:c.359del	NP_006614.2:p.Gln120ArgfsTer9
XM_011541226.1:c.581del	XP_011539528.1:p.Gln194ArgfsTer9
XM_011541227.1:c.503del	XP_011539529.1:p.Gln168ArgfsTer9
XM_011541228.1:c.470del	XP_011539530.1:p.Gln157ArgfsTer9
XM_011541229.1:c.296del	XP_011539531.1:p.Gln99ArgfsTer9
XM_011541230.1:c.74del	XP_011539532.1:p.Gln25ArgfsTer9
XM_011541231.1:c.65del	XP_011539533.1:p.Gln22ArgfsTer9
XM_011541226.2:c.581del	XP_011539528.1:p.Gln194ArgfsTer9
XM_011541227.2:c.503del	XP_011539529.1:p.Gln168ArgfsTer9
XM_011541228.2:c.470del	XP_011539530.1:p.Gln157ArgfsTer9
XM_011541231.2:c.65del	XP_011539533.1:p.Gln22ArgfsTer9
XM_024446338.1:c.470del	XP_024302106.1:p.Gln157ArgfsTer9
NM_006623.4:c.359del MANE Select	NP_006614.2:p.Gln120ArgfsTer9